The condition affects an average of three to four babies a year in Scotland and about 70 infants a year across the UK.
The first baby identified through Scotland’s SMA screening programme has started life-changing treatment.
The baby was tested at five days old through Scotland’s national in-service evaluation of spinal muscular atrophy (SMA) screening.
After a positive result, the baby was referred to specialist services to begin treatment before symptoms developed.
SMA is a rare genetic condition that causes progressive muscle weakness and wasting.
It can affect movement, breathing and swallowing, and symptoms can develop rapidly in infancy.
However, when treatment begins before symptoms appear, outcomes can be significantly improved.
The testing is part of a two-year pilot, funded by the Scottish Government and pharmaceutical company Novartis, for infants born in Scotland to be screened as part of the existing blood spot test done when babies are five days old.
Minister for Public Health Maree Todd said: “I’m really proud that Scotland became the first country in the UK to start the evaluation of SMA screening, supported by Scottish Government and Novartis funding.
“Early screening means SMA can be detected and treated before symptoms develop, profoundly improving quality of life, both for babies and their families.
“I want to place on record my thanks to the Scottish Newborn Screening Laboratory, hosted by NHS GGC, for the work they are doing and I look forward to seeing the results of this transformational programme.”
The condition affects an average of three to four babies a year in Scotland and about 70 infants a year across the UK.
The in-service evaluation of newborn screening for SMA was the first of its kind in the UK.
The evaluation at the Queen Elizabeth University Hospital campus in Glasgow was introduced to gather scientific evidence to allow the UK National Screening Committee to determine whether SMA screening should be introduced permanently to the newborn bloodspot screening programme.
Dr Sarah Smith, consultant clinical scientist and director of the Scottish Newborn Screening Laboratory, said the result demonstrates the “real-life impact” screening can have.
She said: “This is exactly why the in-service evaluation of newborn screening for SMA was introduced. Identifying a baby before symptoms develop gives clinical teams the opportunity to act quickly and begin treatment at the earliest possible stage.
“While SMA remains a rare condition, this milestone demonstrates the real-life impact screening can have for babies and families across Scotland.
“Early diagnosis offers the best possible chance of improved outcomes and highlights the value of this important national programme.”
